Alternating Hemiplegia of Childhood, neurological comorbidities, intrafamilial variability: case-reports and literature review.

2021 ◽  
Author(s):  
Piero Pavone ◽  
Xena Giada Pappalardo ◽  
Naira Mustafa ◽  
Sung Yoon Cho ◽  
Dong Kyu Jin ◽  
...  
Keyword(s):  
Literature Review ◽  
Developmental Delay ◽  
Age Of Onset ◽  
Case Reports ◽  
Epileptic Seizures ◽  
The Body ◽  
Motor Dysfunction ◽  
Missense Mutations ◽  
Alternating Hemiplegia Of Childhood ◽  
Novel Variant

Abstract BACKGROUND Alternating Hemiplegia of Childhood (AHC) is an uncommon and complex disorder characterized by age of onset before 18 months, recurrent hemiplegia of one or either sides of the body or quadriplegia. Neurological comorbidities observed in two couples of AHC affected children are here reported together with data drawn by literature review. Results of genetic analysis obtained in the probands are also discussed. Developmental delay, epilepsy, tonic or dystonic spells, nystagmus and autonomic manifestations are frequently reported. AHC is mainly caused by mutations in ATP1A3 gene, and to a lesser extent in ATP1A2 gene.CASE PRESENTATION Clinical and genetic findings of a couple of twins and a couple of siblings affected by AHC from two different Italian families were deeply examined. Intrafamilial clinical variability was shown in the present cases. A pathogenic variant rs606231437 in ATP1A3 gene was detected in twins. For the affected siblings of family 2, the genetic results showed that the older brother and the healthy father shared a novel variant of GRIN2A (c.3175T>A) gene, and two missense mutations in SCNIB (rs150721582) and KCNQ2 (rs771211103) genes. In the younger brother was found only the GRIN2A variant.CONCLUSIONS Developmental delay, epileptic seizures and motor dysfunction are features frequently associated to paroxysmal hemiplegic attacks. Hemiplegic episode is only a sign even if the most remarkable of several neurological comorbidities in AHC carriers. The comparison of molecular analysis among the four probands brings out how the genetic framework is not recurrent, but may result from an unexpected greater genetic heterogeneity.

scholarly journals Alternating Hemiplegia of Childhood and Neurological Comorbidities. Variable Intrafamilial Clinical Features.

2020 ◽  
Author(s):  
Piero Pavone ◽  
Xena Giada Pappalardo ◽  
Naira Mustafa ◽  
Sung Yoon Cho ◽  
Dong Kyu Jin ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Age Of Onset ◽  
Epileptic Seizures ◽  
The Body ◽  
Motor Dysfunction ◽  
The Other ◽  
Case Presentation ◽  
Complex Disorder ◽  
Alternating Hemiplegia Of Childhood ◽  
Novel Variant

Abstract BACKGROUND Alternating Hemiplegia of Childhood (AHC) is an uncommon and complex disorder characterized by age of onset before 18 months, recurrent hemiplegia of one or either sides of the body or quadriplegia. Developmental delay, epilepsy, tonic or dystonic spells, nystagmus and autonomic manifestations are frequently reported manifestations. AHC is mainly caused by mutations in ATP1A3 gene, and to a lesser extent in ATP1A2 gene.CASE PRESENTATION Clinical and genetic findings of a couple of twins and a couple of siblings affected by AHC from two different Italian families were deeply examined. Intrafamilial clinical variability was shown in the present cases. A pathogenic variant rs606231437 in ATP1A3 gene was detected in twins, while in one of the siblings was found a novel variant of GRIN2A (c.3175T>A) gene, shared by the other brother who also had a variant in SCN1B (c.632G>A) and KCNQ2 (c.1870G>A) genes.CONCLUSIONS Developmental delay, epileptic seizures and motor dysfunction are features frequently associated to paroxysmal hemiplegic attacks. Hemiplegic episode is only a sign even if the most remarkable of several neurological comorbidities in AHC carriers. Therefore, we suggest that the view of the disorder should be greatly changed to the term “AHC spectrum disorder". The comparison of molecular analysis among the four probands brings out how the genetic framework is not recurrent, but may result from an unexpected greater genetic heterogeneity, such as seen in siblings carrying a new set of gene variants implicated in channelopathies likely to be eligible as further risk factors for AHC.

The management of patients with new epileptic seizures in the early period after resection of hemispheric tumors: two case reports and a literature review

2017 ◽  
Vol 81 (5) ◽  
pp. 96 ◽  
Author(s):  
E. Yu. Sokolova ◽  
I. A. Savin ◽  
A. B. Kadasheva ◽  
A. V. Gavryushin ◽  
D. I. Pitskhelauri ◽  
...  
Keyword(s):  
Literature Review ◽  
Case Reports ◽  
Early Period ◽  
Epileptic Seizures

scholarly journals Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Xiaojian Mao ◽  
Sichi Liu ◽  
Yunting Lin ◽  
Zhen Chen ◽  
Yongxian Shao ◽  
...  
Keyword(s):  
Age Of Onset ◽  
Novel Mutation ◽  
Case Reports ◽  
Chinese Children ◽  
Deciduous Teeth ◽  
Missense Mutations ◽  
The Novel ◽  
Genetic Characteristics ◽  
Chinese Families ◽  
Alp Activity

Abstract Objective Hypophosphatasia (HPP) is an inherited disorder of defective skeletal mineralization caused by mutations in the ALPL gene that encodes the Tissue Non-specific Alkaline Phosphatase (TNSALP). It is subdivided into six forms depending on the age of onset: perinatal lethal, prenatal benign, infantile, childhood, adult, and odonto HPP. Among these, infantile HPP is characterized by early onset and high frequency of lethal outcome. Few studies have reported the phenotype and genetic characteristics of HPP in Chinese children. Case presentation Three forms of HPP were identified in four unrelated patients from four different Chinese families, including one lethal infantile (patient 1), two childhood (patient 2 and 3) and one odonto HPP (patient 4). Six variants in the ALPL gene were identified, including five missense mutations and one frameshift mutation. Of which, none were reported previously in the Chinese population, and two were novel (c.359G > C: p.G120A and c.1017dupG: p.H340AfsX3). Patient 1 carrying a novel homozygous (c.359G > C) mutation showed respiratory distress and pneumonia at first day of his life. He presented nearly negligible level of serum ALP activity, overall skeletal hypominaralization and died at 3 months old. Patient 2, 3 and 4 were compound heterozygotes with decreased serum ALP activity. Patient 2 and 3 presented premature loss of deciduous teeth, muscle weakness and bone pain, whereas patient 4 had early loss of deciduous teeth only. All four pedigrees exhibited autosomal recessive pattern of inheritance. Conclusions In this study, six mutations in the ALPL gene were found in four Chinese HPP patients, two of which were novel: c.359G > C in exon 5 and c.1017dupG in exon 10. Our results strongly indicated that the novel mutation c.359G > C might be disease-causing and associated with severe infantile form of HPP.

111 Epileptic seizures in multiple sclerosis

2018 ◽  
Vol 89 (6) ◽  
pp. A44.1-A44
Author(s):  
Stephen Walsh ◽  
Joel Corbett ◽  
K Meng Tan ◽  
Simon Broadley
Keyword(s):  
Multiple Sclerosis ◽  
Demyelinating Disease ◽  
Age Of Onset ◽  
Case Reports ◽  
Case Series ◽  
Clinical Information ◽  
Epileptic Seizures ◽  
Disease Course ◽  
Number Of Patients ◽  
Significant Difference

IntroductionEpileptic seizures have been described in association with multiple sclerosis (MS) in both anecdotal case reports and case series. The recent identification of specific antibodies to myelin oligodendrocyte glycoprotein (MOG) protein in a small number of patients with demyelinating disease which may resemble neuromyelitis optica or acute disseminated encephalopathy, which may involve seizures, raises the possibility that anti-MOG antibody related demyelination may account for the association of epilepsy with MS.MethodsWe have undertaken a retrospective review of cases of MS diagnosed at the Gold Coast MS clinic over a 10 year period. All cases were systematically asked if they had ever had an epileptic seizure either via a patient completed questionnaire or at a clinic visit. Demographic and clinical information were also recorded. These data have been analysed using descriptive statistics and appropriate tests for significant differences between those with epilepsy and those without.Results428 cases with complete data were identified. Those with a history of epilepsy were slightly younger (median (range); 44.5 (27–64) years vs 4715–88 years), but this difference was not statistically significantly different. The gender ratio was the same for both groups (9/12 (75%) for those with epilepsy and 326/416 (78%)). There was no significant difference in age of onset, disease course, relapse frequency or level of disability. Although numbers are small, seizure appear to occur most frequently earlier in the disease course and are rarely an ongoing issue.ConclusionThese data support earlier work indicating that epilepsy occurs in people with MS who are younger. This fits with the notion that seizures arise in the context of the inflammatory stage of multiple sclerosis rather than the degenerative phase. Further work needs to be undertaken to assess any association with anti-MOG antibodies and epileptic seizures in demyelinating disease.

scholarly journals Goldberg-Shprintzen Syndrome Associated with a Novel Variant in the KIFBPGene

2021 ◽  
pp. 1-4
Author(s):  
Pelin Ozyavuz Cubuk
Keyword(s):  
Developmental Delay ◽  
Clinical Features ◽  
Hirschsprung Disease ◽  
Missense Mutations ◽  
Dysmorphic Features ◽  
Brain Anomalies ◽  
Responsible Gene ◽  
Novel Variant ◽  
Exome Analysis ◽  
Kinesin Family

Goldberg-Shprintzen syndrome (GOSHS) is characterized by microcephaly, developmental delay, dysmorphic features, Hirschsprung disease (HSCR), and brain anomalies. The kinesin family binding protein (<i>KIFBP</i>; MIM 60937) gene has been identified as the responsible gene of the syndrome. To date, 16 different biallelic <i>KIFBP</i> mutations have been identified in 34 patients with GOSHS. Even though most of these mutations are nonsense and frameshift, 3 missense mutations have also been described. Here, we report an 18-month-old patient with microcephaly, developmental delay, dysmorphic features and HSCR. Exome analysis was performed to clarify the etiology of the clinical features. A previously unreported homozygous c.1723delC (p.H575Ifs*19) variant was detected in the last exon 7 of <i>KIFBP</i> which led to GOSHS. According to our findings, we suggest that this mutation expands mutational databases and contributes to the understanding of the phenotypic features of the syndrome.

scholarly journals NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation

Life ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 187
Author(s):  
Ivana Dabaj ◽  
Bénédicte Sudrié-Arnaud ◽  
François Lecoquierre ◽  
Kimiyo Raymond ◽  
Franklin Ducatez ◽  
...  
Keyword(s):  
Literature Review ◽  
Exome Sequencing ◽  
Developmental Delay ◽  
Autosomal Recessive Disorder ◽  
Global Developmental Delay ◽  
Feeding Difficulties ◽  
Whole Exome ◽  
Novel Variant ◽  
Multisystemic Disease ◽  
Molecular Description

NGLY1 deficiency is the first recognized autosomal recessive disorder of N-linked deglycosylation (NGLY1-CDDG). This severe multisystemic disease is still poorly known and, to date, most cases have been diagnosed through whole exome or genome sequencing. The aim of this study is to provide the clinical, biochemical and molecular description of the first NGLY1-CDDG patient from France along with a literature review. The index case presented with developmental delay, acquired microcephaly, hypotonia, alacrimia, feeding difficulty, and dysmorphic features. Given the complex clinical picture and the multisystemic involvement, a trio-based exome sequencing was conducted and urine oligosaccharides were assessed using mass spectrometry. The exome sequencing revealed a novel variant in the NGLY1 gene in a homozygous state. NGLY1 deficiency was confirmed by the identification of the Neu5Ac1Hex1GlcNAc1-Asn oligosaccharide in the urine of the patient. Literature review revealed the association of some key clinical and biological features such as global developmental delay—hypertransaminasemia, movement disorders, feeding difficulties and alacrima/hypolacrima.

scholarly journals Two Novel Mutations in the ALPL gene of Unrelated Chinese Children with Hypophosphatasia: Case Reports and Literature Review

2019 ◽  
Author(s):  
Xiaojian Mao ◽  
Sichi Liu ◽  
Yunting Lin ◽  
Zhen Chen ◽  
Yongxian Shao ◽  
...  
Keyword(s):  
Age Of Onset ◽  
Novel Mutation ◽  
Case Reports ◽  
Chinese Children ◽  
Deciduous Teeth ◽  
Missense Mutations ◽  
The Novel ◽  
Genetic Characteristics ◽  
Chinese Families ◽  
Alp Activity

Abstract Objective: Hypophosphatasia (HPP) is an inherited disorder of defective skeletal mineralization caused by mutations in the ALPL gene that encodes the Tissue Non-specific Alkaline Phosphatase (TNSALP). It is subdivided into six forms depending on the age of onset: perinatal lethal, prenatal benign, infantile, childhood, adult, and odonto HPP. Among these, infantile HPP is characterized by early onset and high frequency of lethal outcome. Few studies have reported the phenotype and genetic characteristics of HPP in Chinese children. Case presentation: Three forms of HPP were identified in four unrelated patients from four different Chinese families, including one lethal infantile (patient 1), two childhood (patient 2 and 3) and one odonto HPP (patient 4). Six variants in the ALPL gene were identified, including five missense mutations and one frameshift mutation. Of which, none were reported previously in the Chinese population, and two were novel (c.359G>C: p.G120A and c.1017dupG: p.H340AfsX3). Patient 1 carrying a novel homozygous (c.359G>C) mutation showed respiratory distress and pneumonia at first day of his life. He presented nearly negligible level of serum ALP activity, overall skeletal hypominaralization and died at 3 months old. Patient 2, 3 and 4 were compound heterozygotes with decreased serum ALP activity. Patient 2 and 3 presented premature loss of deciduous teeth, muscle weakness and bone pain, whereas patient 4 had early loss of deciduous teeth only. All four pedigrees exhibited autosomal recessive pattern of inheritance. Conclusions: In this study, six mutations in the ALPL gene were found in four Chinese HPP patients. Two of which were novel: c.359G>C in exon 5 and c.1017dupG in exon 10. Our results strongly indicated that the novel mutation c.359G>C might be disease-causing and associated with severe infantile form of HPP.

scholarly journals Two Novel Mutations in the ALPL gene of Unrelated Chinese Children with Hypophosphatasia: Case Reports and Literature Review

2019 ◽  
Author(s):  
Xiaojian Mao ◽  
Sichi Liu ◽  
Yunting Lin ◽  
Zhen Chen ◽  
Yongxian Shao ◽  
...  
Keyword(s):  
Age Of Onset ◽  
Novel Mutation ◽  
Case Reports ◽  
Chinese Children ◽  
Deciduous Teeth ◽  
Missense Mutations ◽  
The Novel ◽  
Genetic Characteristics ◽  
Chinese Families ◽  
Alp Activity

Abstract Objective: Hypophosphatasia (HPP) is an inherited disorder of defective skeletal mineralization caused by mutations in the ALPL gene that encodes the Tissue Non-specific Alkaline Phosphatase (TNSALP). It is subdivided into six forms depending on the age of onset: perinatal lethal, prenatal benign, infantile, childhood, adult, and odonto HPP. Among these, infantile HPP is characterized by early onset and high frequency of lethal outcome. Few studies have reported the phenotype and genetic characteristics of HPP in Chinese children. Case presentation: Three forms of HPP were identified in four unrelated patients from four different Chinese families, including one lethal infantile (patient 1), two childhood (patient 2 and 3) and one odonto HPP (patient 4). Six variants in the ALPL gene were identified, including five missense mutations and one frameshift mutation. Of which, none were reported previously in the Chinese population, and two were novel (c.359G>C: p.G120A and c.1017dupG: p.H340AfsX3). Patient 1 carrying a novel homozygous (c.359G>C) mutation showed respiratory distress and pneumonia at first day of his life. He presented nearly negligible level of serum ALP activity, overall skeletal hypominaralization and died at 3 months old. Patient 2, 3 and 4 were compound heterozygotes with decreased serum ALP activity. Patient 2 and 3 presented premature loss of deciduous teeth, muscle weakness and bone pain, whereas patient 4 had early loss of deciduous teeth only. All four pedigrees exhibited autosomal recessive pattern of inheritance. Conclusions: In this study, six mutations in the ALPL gene were found in four Chinese HPP patients. Two of which were novel: c.359G>C in exon 5 and c.1017dupG in exon 10. Our results show that the novel mutation c.359G>C is strongly indicated to be disease-causing and associated with severe infantile form of HPP.

35 A case of topiramate induced psychosis in a patient treated for seizure disorder and comprehensive literature review

2020 ◽  
Vol 91 (8) ◽  
pp. e22.2-e22
Author(s):  
Michael Heinz ◽  
Karissa Tauber ◽  
William Schleyer ◽  
William Keller
Keyword(s):  
Literature Review ◽  
Psychotic Disorders ◽  
Age Of Onset ◽  
Case Reports ◽  
Psychiatric Inpatient ◽  
Psychotic Symptoms ◽  
Psychotic Episode ◽  
Current Case ◽  
Comprehensive Literature Review ◽  
Pubmed Database

Objectives/aimsThe objective of this paper is to present a case report of a patient with what we believe to be topiramate-induced psychosis. We also aim to persuade the reader to consider such a diagnosis in the differential of patients like ours. We present a comprehensive literature review of other similar cases, as well as a possible mechanism by which topiramate causes psychosis.MethodsWe reviewed the patient‘s chart in our electronic medical record and we conducted review of current case reports documenting associations between antiepileptic medications and psychosis. We used the PubMed database, using search terms ‘psychotic disorders,’ ‘hallucinations,’ ‘delusions,’ ‘psychosis’ in conjunction with ‘topiramate,’ ‘Topamax,’ ‘anti-seizure medication,’ ‘anti-epileptic medication.’ResultsWe present the case of a 66 year old woman admitted to the psychiatric inpatient unit for management of severe, recent onset psychotic delusions and hallucinations. Prior to this psychotic episode, she had no known psychiatric history and had functioned independently at home. The patient was recently transitioned to topiramate 100 mg BID for migraines and seizures, the latter of which had started after traumatic subdural hematoma 9 years prior. The patient had an extensive medical work-up on the inpatient psychiatry unit, including head imaging, EEG, and lab tests, all of which were non-contributory. She was started on risperidone and showed little improvement. At the recommendation of neurology, topiramate was discontinued in favor of an alternative antiepileptic. With discontinuation of topiramate, the patient had almost complete resolution of psychotic symptoms. She was discharged home.ConclusionTopiramate-induced psychosis should be considered in patients being treated with topiramate who present with psychosis. Special consideration of this diagnosis should be made in patients like ours, in whom older age of onset makes primary psychotic illness less likely. Continued study in this area will be necessary to definitely establish a causal relationship and identify the mechanism of this phenomenon.

scholarly journals Lamotrigine-induced sexual dysfunction and non-adherence: case analysis with literature review

BJPsych Open ◽  
2017 ◽  
Vol 3 (5) ◽  
pp. 249-253 ◽  
Author(s):  
Kenneth R. Kaufman ◽  
Melissa Coluccio ◽  
Kartik Sivaraaman ◽  
Miriam Campeas
Keyword(s):  
Sexual Dysfunction ◽  
Literature Review ◽  
Case Reports ◽  
Case Analysis ◽  
Epileptic Seizures ◽  
Total Daily Dose ◽  
Post Traumatic Stress ◽  
Complex Partial Seizures ◽  
Anti Epileptic Drug ◽  
Sexual Histories

BackgroundOptimal anti-epileptic drug (AED) treatment maximises therapeutic response and minimises adverse effects (AEs). Key to therapeutic AED treatment is adherence. Non-adherence is often related to severity of AEs. Frequently, patients do not spontaneously report, and clinicians do not specifically query, critical AEs that lead to non-adherence, including sexual dysfunction. Sexual dysfunction prevalence in patients with epilepsy ranges from 40 to 70%, often related to AEDs, epilepsy or mood states. This case reports lamotrigine-induced sexual dysfunction leading to periodic non-adherence.AimsTo report lamotrigine-induced sexual dysfunction leading to periodic lamotrigine non-adherence in the context of multiple comorbidities and concurrent antidepressant and antihypertensive pharmacotherapy.MethodCase analysis with PubMed literature review.ResultsA 56-year-old male patient with major depression, panic disorder without agoraphobia and post-traumatic stress disorder was well-controlled with escitalopram 20 mg bid, mirtazapine 22.5 mg qhs and alprazolam 1 mg tid prn. Comorbid conditions included complex partial seizures, psychogenic non-epileptic seizures (PNES), hypertension, gastroesophageal reflux disease and hydrocephalus with patent ventriculoperitoneal shunt that were effectively treated with lamotrigine 100 mg tid, enalapril 20 mg qam and lansoprazole 30 mg qam. He acknowledged non-adherence with lamotrigine secondary to sexual dysfunction. With lamotrigine 300 mg total daily dose, he described no libido with impotence/anejaculation/anorgasmia. When off lamotrigine for 48 h, he described becoming libidinous with decreased erectile dysfunction but persistent anejaculation/anorgasmia. When off lamotrigine for 72 h to maximise sexual functioning, he developed auras. Family confirmed patient's consistent monthly non-adherence for 2–3 days during the past year.ConclusionsSexual dysfunction is a key AE leading to AED non-adherence. This case describes dose-dependent lamotrigine-induced sexual dysfunction with episodic non-adherence for 12 months. Patient/clinician education regarding AED-induced sexual dysfunction is warranted as are routine sexual histories to ensure adherence.

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